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glutaric acid and Propionic Acidemia

glutaric acid has been researched along with Propionic Acidemia in 1 studies

glutaric acid: RN given refers to parent cpd
glutaric acid : An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid.

Propionic Acidemia: Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.

Research Excerpts

ExcerptRelevanceReference
"0%) were diagnosed as organic acidemias among the 1000 patients, including 20 methylmalonic acidemia, 6 propionic acidemia, 3 isovaleric acidemia, 3 glutaric acidemia type I, 3 glutaric acidemia type II, 2 biotinidas deficiency, 1 3-methylcrotonyl-CoA carboxylase deficiency, 1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, and 1 beta-keto thiolase deficiency."3.73[Application of tandem mass spectrometry in diagnosis of organic acidemias]. ( Gao, XL; Gu, XF; Han, LS; Qiu, WJ; Ye, J, 2005)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Han, LS1
Gao, XL1
Ye, J1
Qiu, WJ1
Gu, XF1

Other Studies

1 other study available for glutaric acid and Propionic Acidemia

ArticleYear
[Application of tandem mass spectrometry in diagnosis of organic acidemias].
    Zhonghua er ke za zhi = Chinese journal of pediatrics, 2005, Volume: 43, Issue:5

    Topics: Adolescent; Child; Child, Preschool; Female; Filtration; Gas Chromatography-Mass Spectrometry; Gluta

2005